Canonical Allele Identifier: CA2695236438

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413827_134413830del , CM000685.2:g.134413827_134413830del	GRCh38
NC_000023.10:g.133547857_133547860del , CM000685.1:g.133547857_133547860del	GRCh37
NC_000023.9:g.133375523_133375526del	NCBI36
NG_008886.1:g.45516_45519del , LRG_629:g.45516_45519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*509_*512del	ENSP00000510193.1:n.*509_*512del
ENST00000687496.1:c.488_491del	ENSP00000509551.1:p.Asp163GlyfsTer20
ENST00000688598.1:c.488_491del	ENSP00000510410.1:p.Asp163GlyfsTer20
ENST00000691812.1:c.590_593del	ENSP00000510211.1:p.Asp197GlyfsTer20
ENST00000693759.1:c.*202_*205del	ENSP00000509518.1:n.*202_*205del
ENST00000370803.8:c.590_593del MANE Select	ENSP00000359839.4:p.Asp197GlyfsTer20
ENST00000332070.7:c.590_593del	ENSP00000329097.3:p.Asp197GlyfsTer20
ENST00000370799.5:c.593_596del	ENSP00000359835.1:p.Asp198GlyfsTer20
ENST00000370800.4:c.593_596del	ENSP00000359836.4:p.Asp198GlyfsTer20
ENST00000370803.7:c.590_593del	ENSP00000359839.3:p.Asp197GlyfsTer20
ENST00000625464.2:c.593_596del	ENSP00000487420.1:p.Asp198GlyfsTer20
NM_001015877.1:c.590_593del , LRG_629t1:c.590_593del	NP_001015877.1:p.Asp197GlyfsTer20
NM_032335.3:c.593_596del , LRG_629t2:c.593_596del	NP_115711.2:p.Asp198GlyfsTer20
NM_032458.2:c.590_593del	NP_115834.1:p.Asp197GlyfsTer20
NM_001015877.2:c.590_593del MANE Select	NP_001015877.1:p.Asp197GlyfsTer20
NM_032458.3:c.590_593del	NP_115834.1:p.Asp197GlyfsTer20